Nablus Mask-Like Facial syndrome

What is Nablus Mask-Like Facial syndrome?

It is a rare genetic syndrome, also known as a microdeletion syndrome. A mask-like facial appearance is a defining feature of the syndrome. The syndrome also presents with other unique facial features.

What gene changes cause Nablus Mask-Like Facial syndrome?

The syndrome is caused by a deletion on chromosome 8, specifically 8q22.1

What are the main symptoms of Nablus Mask-Like Facial syndrome?

The main symptoms of the syndrome include the presence of a mask-like facial appearance. Other unique facial features include narrow eye openings, tight and glistening facial skin, a flat and broad nose, ears that are malformed, and an unusual scalp hair pattern.

Other unique physical features of the syndrome include fingers and toes that are permanently bent, joint contractures that make movement in the hands and feet difficult.

Other symptoms include dental anomalies, mild development delay and in males undescended testes.

How does someone get tested for Nablus Mask-Like Facial syndrome?

The initial testing for Nablus Mask-Like Facial syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

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